PITPNM1
Description
The PITPNM1 (phosphatidylinositol transfer protein membrane associated 1) is a protein-coding gene located on chromosome 11.
Membrane-associated phosphatidylinositol transfer protein 1 is a protein that in humans is encoded by the PITPNM1 gene.
PITPNM1 catalyzes the transfer of phosphatidylinositol (PI) between membranes. It binds PI, phosphatidylcholine (PC) and phosphatidic acid (PA) with the binding affinity order of PI > PA > PC. PITPNM1 regulates RHOA activity, and plays a role in cytoskeleton remodeling. It is necessary for normal completion of cytokinesis. PITPNM1 plays a role in maintaining normal diacylglycerol levels in the Golgi apparatus, and is necessary for maintaining the normal structure of the endoplasmic reticulum and the Golgi apparatus. It is required for protein export from the endoplasmic reticulum and the Golgi. PITPNM1 binds calcium ions.
PITPNM1 is also known as DRES9, NIR2, PITPNM, RDGB, RDGB1, RDGBA, RDGBA1, Rd9.
Associated Diseases
- retinal degeneration
- hypoparathyroidism, familial isolated, 2
- 22q11.2 deletion syndrome
- diabetes mellitus, permanent neonatal 4
- hypoinsulinemic hypoglycemia and body hemihypertrophy
- cholesterol-ester transfer protein deficiency
- isolated hyperchlorhidrosis
- hypertriglyceridemia 2
- hyperinsulinism due to INSR deficiency
- blue diaper syndrome
